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Updated: Feb 6, 2026

Separation of Immune Cell Subpopulations in Peripheral Blood Samples from Children with Infectious Mononucleosis

Separation of Immune Cell Subpopulations in Peripheral Blood Samples from Children with Infectious Mononucleosis

Published on: September 7, 2022

小児における先天性免疫不全症の検出における臨床的警告兆候：診断精度の系統的レビュー

Amina Aden¹, Isabel Jemide¹, Tanzil Islam¹

¹The Faculty of Life Sciences & Medicine, King's College London, London, United Kingdom.

The journal of allergy and clinical immunology. In practice

|February 4, 2026

要旨

Background:

Early recognition of inborn errors of immunity (IEI), formerly primary immunodeficiencies, is crucial, yet the diagnostic accuracy of widely promoted clinical "warning signs" in children is uncertain.

Objective:

To assess the diagnostic accuracy of clinical warning signs and established criteria for identifying paediatric IEI.

Methods:

We searched MEDLINE and EMBASE (inception-May 2024) for studies reporting sensitivity and specificity of individual or combined warning signs in children (0-18 years) with suspected IEI. The reference standard was physician-confirmed IEI. Data were synthesised descriptively and, where appropriate, using bivariate random-effects models. Risk of bias was assessed with QUADAS-2.

Results:

Twelve studies (∼7,000 participants, eight countries) met inclusion criteria. Diagnostic performance was highly heterogeneous, and pooled estimates are exploratory. Overall, most individual warning signs showed high specificity but low sensitivity; family history of IEI and signs such as persistent thrush, deep-seated abscesses and failure to thrive were generally highly specific but insensitive. Infection-based signs such as recurrent pneumonia or need for intravenous antibiotics provided a more balanced but still imperfect profile. Combinations of signs, including the Jeffrey Modell Foundation (JMF) threshold of ≥2 warning signs, improved sensitivity in some settings but with variable specificity, and up to one third of children with IEI did not meet any JMF warning-sign criteria.

Conclusions:

Traditional warning signs have good rule-in but poor rule-out value for paediatric IEI. Reliance on these signs alone risks delayed or missed diagnoses, particularly for non-infectious IEI phenotypes. Context-specific criteria and decision-support tools are needed to better capture the breadth of IEI presentations and support timely referral.

キーワード:

小児診断精度先天性免疫不全症原発性免疫不全症警告兆候

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